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| SLC22A4和RUNX1基因的单核苷酸多态性与中国汉族类风湿性关节炎和强直性关节炎的关联分析 |
| 程宁1,陈蕊雯1*,蔡青2,段世伟3,房萌1,郑桂敏4，王智华5，林经安6,孙树汉1* |
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| (1. 第二军医大学基础部医学遗传学教研室, 上海 200433; 2. 第二军医大学长海医院风湿免疫科, 上海 200433; 3. 上海交通大学Bio-X 生命科学研究中心，上海 200031;4. 河北省人民医院风湿免疫科，石家庄 050051;5. 河北省人民医院老年病实验室，石家庄 050051;6. 福建医科大学第一附属医院中心实验室，福州 350005) |
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| 摘要: |
| 目的：在中国汉族人群中进行功能候选基因SLC22A4(solute carrier family 22 member 4)和RUNX1(runt-related transcription factor 1)与类风湿性关节炎（rheumatoid arthritis, RA）以及强直性脊柱炎 （ankylosing spondylitis， AS）的关联分析。方法：在104例RA患者和109名正常对照以及278 例AS患者和417名正常对照中，用直接测序法对SLC22A4的3个单核苷酸多态性（single nucleotide polymorphism, SNP）位点 和RUNX1的1个SNP进行基因分型，并分析这些等位基因和基因型是否与RA和AS的发病有关。结果：在RA 和 AS 病例-对照组中均没有发现SLC22A4和RUNX1的SNPs在等位基因以及基因型频率上有显著性差异。结论：在中国汉族人群中，SLC22A4和RUNX1不是RA和 AS 的易感基因。 |
| 关键词: 类风湿性关节炎 强直性脊柱炎 多态性,单核苷酸 SLC22A4 RUNX1 |
| DOI：10.3724/SP.J.1008.2007.00936 |
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| 基金项目:上海市自然科学基金(06ZR14107). |
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| Association between single nucleotide polymorphisms of SLC22A4 and RUNX1 gene with rheumatoid arthritis and ankylosing spondylitis in Chinese Han ethnicity |
| CHENG Ning 1, CHEN Rui-wen 1*, CAI Qing 2, DUAN Shi-wei3, FANG Meng1, ZHENG Gui-min 4, WANG Zhi-hua 5, LIN Jing-an 6, SUN Shu-han 1* |
| (1. Department of Medical Genetics, College of Basic Medical Sciences, Second Military Medical University, Shanghai 200433, China; 2.Department of Rheumatology and Immunology, Changhai Hospital, Second Military Medical University, Shanghai 200433; 3.Bio-X Life Science Research Center, Shanghai Jiaotong University, Shanghai 200031; 4. Department of Rheumatology and Clinical Immunology, the People’s Hospital of Hebei Province, Shijiazhuang 050051;5.Laboratory of Gerontology, the People’s Hospital of Hebei Province, Shijiazhuang 050051; 6. Central Lab, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005) |
| Abstract: |
| Objective：To analyze the correlation between single nucleotide polymorphisms (SNP) of solute carrier family 22 member4 (SLC22A4) and runt-related transcription factor 1(RUNX1) gene with rheumatoid arthritis (RA) and ankylosing spondylitis（AS） in Chinese Han ethnicity. Methods: Case-control studies were conducted with an RA cohort (104 RA patients and 109 healthy subjects) and an AS cohort (278 AS patients and 417 healthy controls). Three SNPs of SLC22A4 gene and an SNP of RUNX1 gene were genotyped by direct sequencing; we also assessed whether these alleles and genotypes were associated with RA and AS. Results: No significant differences in the distribution of the alleles and genotypes of SLC22A4 and RUNX1 polymorphisms were found between patients with RA and AS and healthy controls. Conclusion: Our results suggest that SLC22A4 and RUNX1 polymorphisms analyzed in the present study are not the susceptible genes for RA and AS in Chinese Han ethnicity. |
| Key words: rheumatoid arthritis ankylosing spondylitis polymorphism,single nucleotide SLC22A4 RUNX1 |
